Meredith Gillespie

The value of diagnostic testing for parents of children with rare genetic diseases

Deborah A. Marshall, Karen V. MacDonald, Sebastian Heidenreich et al. · Genetics in Medicine · 2019 · 61 citations · Full text

Medicine, Genetics, Pediatrics +13

Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families

Taila Hartley, Justin D. Wagner, Jodi Warman‐Chardon et al. · Clinical Genetics · 2017 · 59 citations

Life Sciences, Genetics, Neurology +17

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

Irit Hochberg, Leigh Demain, Julie Richer et al. · The American Journal of Human Genetics · 2021 · 57 citations · Full text

Life Sciences, Genetics, Gene Expression +10

Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort

Faheem Malam, Taila Hartley, Meredith Gillespie et al. · American Journal of Medical Genetics Part A · 2017 · 33 citations

Life Sciences, Genetics, Pediatrics +17

Severe neurocognitive and growth disorders due to variation in <i>THOC2</i>, an essential component of nuclear mRNA export machinery

Raman Kumar, Alison Gardner, Claire C. Homan et al. · Human Mutation · 2018 · 24 citations · Full text

Life Sciences, Genetics, Neuroscience +17